Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.

ABSTRACT: Tropomyosin is the major regulator of the thin filament. In striated muscle its function is to bind troponin complex and control the access of myosin heads to actin in a Ca²⁺-dependent manner. It also participates in the maintenance of thin filament length by regulation of tropomodulin and leiomodin, the pointed end-binding proteins. Because the size of the overlap between actin and myosin filaments affects the number of myosin heads which interact with actin, the filament length is one of the determinants of force development. Numerous point mutations in genes encoding tropomyosin lead to single amino acid substitutions along the entire length of the coiled coil that are associated with various types of cardiomyopathy and skeletal muscle disease. Specific regions of tropomyosin

SUBMITTER: Moraczewska J 

PROVIDER: S-EPMC7109180 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature